Allele Registry

Canonical Allele Identifier: PA259855

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000023580

ClinVar Variation:

30606

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Cys58Tyr	CA259854 NM_000520.6:c.173G>A